American journal of medical genetics.
Discontinued
Publisher:
Liss. New York, NY : Wiley-Liss
Frequency: Forty no. a year, 1999-
Country: United States
Language: English
Author(s):
International Society of Psychiatric Genetics.
Start Year:1977 - 2002
ISSN:
0148-7299 (Print)
1096-8628 (Electronic)
0148-7299 (Linking)
1096-8628 (Electronic)
0148-7299 (Linking)
Impact Factor
2
2022
| NLM ID: | 7708900 |
| (DNLM): | A24390000(s) |
| (OCoLC): | 03372843 |
| Coden: | AJMGDA |
| LCCN: | 77643407 |
| Classification: | W1 AM488B |
Overo lethal white foal syndrome: equine model of aganglionic megacolon (Hirschsprung disease). The lethal white foal syndrome (LWFS) is a congenital abnormality of overo spotted horses which is a model for human aganglionic megacolon or Hirschsprung disease. Foals with LWFS have an all white, or nearly all white, coat. They also present clinically with an intestinal obstruction that proves fatal within the first few days of life. The LWFS involves both melanocytes and intestinal ganglion cells, and appears to result from a genetic defect involving neural crest cells. This report describes pathologic studies of two recent cases of LWFS. Two different hypothetical models of inheritance of...